ClinVar Miner

Submissions for variant NM_012452.2(TNFRSF13B):c.41G>A (p.Arg14His) (rs200309474)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756792 SCV000884705 likely benign not provided 2017-06-13 criteria provided, single submitter clinical testing This variant has not been reported in association with primary antibody deficiency in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an East Asian population frequency of 0.17 percent (identified on 32 out of 18,868 chromosomes). The arginine at position 14 is weakly conserved (considering 10 species) (Alamut v.2.9.0) and computational analyses of the effects of the p.Arg14His variant on protein structure and function indicate a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Based on these observations the p.Arg14His variant is likely to be benign.
Invitae RCV001212835 SCV001384435 uncertain significance Common variable immunodeficiency 2 2019-07-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 14 of the TNFRSF13B protein (p.Arg14His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs200309474, ExAC 0.2%). This variant has not been reported in the literature in individuals with TNFRSF13B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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